Canonical Allele Identifier: CA379127201

Gene: TH

Linked Data

• ClinVar Variation Id: 556999
• ClinVar RCV Id: RCV000673081
• dbSNP Id: rs1554923121
• gnomAD v4: 11-2167034-T-C
• MyVariant Identifiers: chr11:g.2188264T>C (hg19) ; chr11:g.2167034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167034T>C , CM000673.2:g.2167034T>C	GRCh38
NC_000011.9:g.2188264T>C , CM000673.1:g.2188264T>C	GRCh37
NC_000011.8:g.2144840T>C	NCBI36
NG_008128.1:g.9772A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-2A>G MANE Select	ENSP00000325951.4:n.696-2A>G
ENST00000324155.8:c.*385-2A>G	ENSP00000325831.3:n.*385-2A>G
ENST00000333684.9:c.695+401A>G	ENSP00000328814.6:n.695+401A>G
ENST00000352909.7:c.696-2A>G	ENSP00000325951.3:n.696-2A>G
ENST00000381168.7:c.*416-2A>G	ENSP00000370560.3:n.*416-2A>G
ENST00000381175.5:c.777-2A>G	ENSP00000370567.1:n.777-2A>G
ENST00000381178.5:c.789-2A>G	ENSP00000370571.1:n.789-2A>G
ENST00000412076.1:c.135+401A>G
ENST00000416223.5:c.136-266A>G
ENST00000469226.1:n.825-2A>G
ENST00000479437.5:n.243A>G
NM_000360.3:c.696-2A>G	NP_000351.2:n.696-2A>G
NM_199292.2:c.789-2A>G	NP_954986.2:n.789-2A>G
NM_199293.2:c.777-2A>G	NP_954987.2:n.777-2A>G
XM_011520335.1:c.708-2A>G	XP_011518637.1:n.708-2A>G
XM_011520335.2:c.708-2A>G	XP_011518637.1:n.708-2A>G
NM_000360.4:c.696-2A>G MANE Select	NP_000351.2:n.696-2A>G
NM_199292.3:c.789-2A>G	NP_954986.2:n.789-2A>G
NM_199293.3:c.777-2A>G	NP_954987.2:n.777-2A>G